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Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
TLDR
CEP152 is a strong candidate for the causal gene underlying MCPH4 and may be an important gene in the evolution of human brain size and published data from zebrafish are consistent with a role of CEP152 in centrosome function. Expand
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature
TLDR
The high incidence of cerebral ischaemia and ocular abnormalities is emphasized, theHigh incidence of thyroid dysfunction and blood cytopenia is defined, and the absence of effective and durable medical therapies is confirmed. Expand
Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease
TLDR
A homozygous pathogenic variant in the gene encoding leucine rich repeat and sterile alpha motif 1 (LRSAM1) plays a role in membrane vesicle fusion during viral maturation and for proper adhesion of neuronal cells in culture, and is a strong candidate for the causal gene for the genetic disorder in this kindred. Expand
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
TLDR
This is the first report, to the authors' knowledge, of a germline mutation in any gene of the origin recognition complex in a vertebrate organism. Expand
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome
TLDR
The combined results show that although the SMAD4 mutations in JP–HHT patients do show a tendency to cluster in the MH2 domain, mutations in other parts of the gene also cause the combined syndrome, so any mutation in SMad4 can cause JP-HHT. Expand
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
TLDR
By positional cloning, this work defines a previously unknown form of autosomal recessive nonsyndromic congenital sideroblastic anemia, associated with mutations in the gene encoding the erythroid specific mitochondrial carrier family protein SLC25A38, and demonstrates that SLC 25A38 is important for the biosynthesis of heme in eukaryotes. Expand
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
TLDR
Seven additional families in which EDS type VII is either dominantly inherited or due to new dominant mutations are identified, expanding the array of mutations known to cause E DS type VII and providing insight into genotype/phenotype relationships in these genes. Expand
Fluctuating asymmetry and disorders of developmental origin.
TLDR
The usefulness of fluctuating asymmetry as a risk marker for disorders of developmental origin has not been established and one obstacle to this assessment is the lack of odds ratios reported by previous authors. Expand
Mutations in a novel serine protease PRSS56 in families with nanophthalmos
TLDR
The PRSS56 gene structure in public databases is a good candidate for the causal gene for nanophthalmos in families, and the structure of a full-length transcript from embryonic mouse brain RNA is validated. Expand
Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants
TLDR
Differences in glucosylceramide acyl and sphingosyl base composition in gray matter from the severely affected patient and that in the Ashkenazi Jewish patient suggested that the accumulated substrates were metabolized differently by the residual enzymes in each case. Expand
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